Hereditary Colon and Rectal Cancer

Our understanding of hereditary colorectal cancer syndromes has dramatically increased in the past 10 years. For years, the clinical characteristics of inherited cancer syndromes were catalogued and memorized. However, recent developments in our understanding of the genetic basis for these syndromes has increased the clinical tools we have to diagnose patients and has changed the manner in which we manage cancer treatment and prevention in these patients. This issue of Clinics in Colon and Rectal Surgery entitled, “Hereditary Colon and Rectal Cancer” provides an in-depth review of inherited colorectal cancer syndromes, their clinical characteristics, molecular diagnostic tools, and treatment decision making.

The articles that follow provide the busy clinician (surgeon, gastroenterologist, medical oncologist, and psychologist) with the latest information and recommendations for the identification, diagnosis, and treatment of patients with inherited colon and rectal cancer. The issue begins with a historical account of the first Lynch syndrome families as well as the evolution of the term, “Lynch syndrome.” The genetic basis of classic Lynch syndrome and alternate genetic mechanisms of a Lynch-like phenotype are described. Clinical diagnostic tools for Lynch and other inherited colorectal cancer syndromes are reviewed and their merits discussed. Factors that impact individualized surgical treatment of patients with familial adenomatosis polyposis (FAP) and Lynch syndrome are evaluated. Surgical options for patients with a cancer diagnosis versus diagnosis of a genetic mutation are presented. Extracolonic manifestations of Lynch syndrome are expanding and the constellation of cancers that contribute to this phenotype are described. Despite new clinical and diagnostic tools, the diagnosis of a genetic cancer syndrome can impact both the individual and the extended family with a myriad of consequences. The role of behavior in accessing treatment, undergoing genetic testing, and adhering to treatment protocols is an important adjunct in the comprehensive treatment of patients. Finally, the prognostic and predictive ability of microsatellite instability (MSI) and the role of chemotherapy in patients with MSI tumors are presented.

I would like to thank the contributors for their time and effort to create an up-to-date resource for their peers. I would also like to thank Dr. David Beck for the opportunity to edit this important and timely issue.